NHLRC1 Polyclonal Antibody
Applications
Reactivity
Predicted Reactivity
| Overview | |
| Catalog # | bs-9331R |
| Product Name | NHLRC1 Polyclonal Antibody |
| Applications |
WB
IHC-P
IF(IHC-P)
|
| Reactivity | Rat |
| Predicted Reactivity | Human, Mouse, Rabbit |
| Specifications | |
| Conjugation | Unconjugated |
| Host | Rabbit |
| Source | KLH conjugated synthetic peptide derived from human NHLRC1 |
| Immunogen Range | 221-320/395 |
| Clonality | Polyclonal |
| Isotype | IgG |
| Concentration | 1ug/ul |
| Purification | Purified by Protein A. |
| Storage Buffer | 0.01M TBS(pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| Storage Condition | Shipped at 4C. Store at -20C for one year. Avoid repeated freeze/thaw cycles. |
| Target | |
| Gene ID | 378884 |
| Synonyms | E3 ubiquitin-protein ligase NHLRC1; EPM2A; EPM2B; Malin; MGC119262; MGC119264; NHL repeat containing 1; NHL repeat containing protein 1; NHL repeat-containing protein 1; NHLC1_HUMAN; NHLRC 1; Nhlrc1. |
| Background | Progressive myoclonic epilepsy type 2 (EPM2), also called Lafora disease, is an autosomal recessive disease characterized by grand mal seizures and/or myoclonus at about 15 years of age. Rapid and severe mental deterioration follows, often with psychotic features. Survival is less than 10 years after onset. Starch-like, endoplasmic reticulum-associated polyglucosans, called Lafora bodies, can be observed in brain, muscle, liver and heart. One cause of Lafora disease is due to mutations in NHLRC1, the gene encoding Malin. Forty-nine different mutations in NHLRC1 have been shown to cause EPM2. Malin, also called NHL repeat-containing protein 1, is a single subunit E3 ubiquitin ligase, containing 6 NHL repeats and 1 RING-type zinc finger. Malin?s RING domain is responsible for its ability to mediate ubiquitination. Malin interacts with and polyubiquitinates Laforin, a protein also implicated in EPM2. Malin localizes to the endoplasmic reticulum and, to a lesser extent, in the nucleus. Malin is expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas. |
| Application Dilution | |
| WB | 1:300-5000 |
| IHC-P | 1:200-400 |
| IF(IHC-P) | 1:50-200 |